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  Domain Name: EFh
EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to the activation or inactivation of target proteins. EF-hands tend to occur in pairs or higher copy numbers.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 51
Total Disease Mutations Found: 26
This domain occurred 127 times on human genes (215 proteins).



  BLEEDING DISORDER, PLATELET-TYPE, 15
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
  CONE DYSTROPHY 3
  CONE DYSTROPHY 3, INCLUDED
  CONE-ROD DYSTROPHY 14
  CONE-ROD DYSTROPHY 14, INCLUDED
  DEAFNESS, AUTOSOMAL RECESSIVE 48
  DIABETES MELLITUS, TYPE II
  FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2
  NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3
  RETINITIS PIGMENTOSA 48
  VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


Feature Name:Total Found:
Ca2+ binding site










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Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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